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FLASH GENE
Symbol APOH contributors: - updated : 11-01-2006
HGNC name apolipoprotein H (beta-2-glycoprotein I)
HGNC id 616
Corresponding disease
APOH deficiency of production of apo-H dependent antiphospholipid autoantibody
Location 17q23.2      Physical location : 64.208.147 - 64.225.556
Synonym name
  • activated protein C-binding protein
  • APC inhibitor
  • anticardiolipin cofactor
  • Synonym symbol(s) BG, B2G1, B2GPI, beta2-GPI
    DNA
    TYPE functioning gene
    STRUCTURE 17.00 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site
    text structure an atypical TATA box and a HNF-1 (hepatic nuclear factor-1) element were both essential for the beta2-GPI promoter activity
    MAPPING cloned Y linked Y status confirmed
    Physical map
    LOC284021 17q24.2 hypothetical protein LOC284021 POLG2 17q polymerase (DNA directed), gamma 2, accessory subunit DDX5 17q21 DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 LOC90799 17q24.2 hypothetical protein BC009518 SMURF2 17q22-q23 hypothetical protein BC009518 LOC388411 17 similar to Importin alpha-2 subunit (Karyopherin alpha-2 subunit) (SRP1-alpha) (RAG cohort protein 1) LOC390807 17 hypothetical gene supported by AK097700 MGC40489 17q24 hypothetical protein MGC40489 LOC388412 17 LOC388412 KIAA0563 17q24.2 LOC388412 LOC390808 17 similar to solute carrier family 16, member 6; monocarboxylate transporter 6 LOC284020 17q24.2 similar to solute carrier family 16, member 6; monocarboxylate transporter 6 FLJ32065 17q24.2 hypothetical protein FLJ32065 GNA13 17q24 guanine nucleotide binding protein (G protein), alpha 13 RGS9 17q24 regulator of G-protein signalling 9 AXIN2 17q23-q24 axin 2 (conductin, axil) MGC33887 17q24.2 hypothetical protein MGC33887 LOC280637 17q24.2 proteasome 26S non-ATPase subunit 7 pseudogene APOH 17q23.2 apolipoprotein H (beta-2-glycoprotein I) PRKCA 17q22-q23.2 protein kinase C, alpha CACNG5 17q24 calcium channel, voltage-dependent, gamma subunit 5 CACNG4 17q24 calcium channel, voltage-dependent, gamma subunit 4 CACNG1 17q24 calcium channel, voltage-dependent, gamma subunit 1 HELZ 17q24.2 helicase with zinc finger domain PSMD12 17q24.3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 PITPNC1 17q24.3 phosphatidylinositol transfer protein, cytoplasmic 1 DKFZP586L0724 17q24.3 DKFZP586L0724 protein LOC253924 17q24.3 similar to 60S ribosomal protein L17 (L23) FALZ 17q24 fetal Alzheimer antigen
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   predominantly
     pancreas exocrine   highly
    Lymphoid/Immunespleen   moderately
    Urinarykidney   moderately
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four Sushi (CCP/SCR) domains
  • conjugated GlycoP , LipoP
    HOMOLOGY
    interspecies ortholog to murine Apoh
    ortholog to Canis familiari APOH
    Homologene
    FAMILY
    CATEGORY immunity/defense , transport
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • precursor activator of lipoprotein lipase
  • cofactor for the binding of antianionic phospholipid autoantibodies
  • may prevent activation of the intrinsic blood coagulation cascade by binding to phospholipids on the surface of damaged cells
  • acting as a lipid transporter
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule other,
  • various kinds of negatively charged substances such as heparin, phospholipids, and dextran sulfate
  • protein
    cell & other
    REGULATION
    Other regulated by HNF-1alpha (may play an important role in cell-specific regulation of beta2-GPI gene expression)
    ASSOCIATED DISORDERS
    corresponding disease(s) APOH
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS